COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?

BMC Nephrology

Table 1 Clinical data of CY5500 family

Patient	Gender	Micr. Hematuria	Proteinuria	CRF	Kidney Cysts	ESRD	Renal biopsy result (age range performed)
UCY2069	Male	YES	YES	YES	YES	YES, dialysis	FSGS – thick GBM (50–55 yrs)
UCY2075	Male	YES	YES	YES	YES	YES, transplanted	FSGS - no EM (50–55 yrs)
UCY2074	Female	YES	YES	NO	Not known	NO	FSGS (20–25 yrs)
UCY4041	Female	YES	YES	NO	NO	NO	FSGS – thinning and thickening of GBM (25–30 yrs)

CRF Chronic Renal Failure, ESRD End Stage of Renal Disease, EM Electron Microscope, FSGS Focal Segmental Glomerulosclerosis, GBM Glomerular Basement Membrane

ISSN: 1471-2369